Mutation analysis and prenatal diagnosis of a Chinese family with Fanconianemia

Zhuwen Gong, Qigang Zhang, Xuefan Gu

Abstract

Fanconi anemia (FA) is a rare genetic blood disorder. Because there are at least 15 genetic subtypes that are associated with its development, and large deletions, duplications, or sequence variations are frequently found in some of these genes, customary genetic testing for FA is complicated and time-consuming. Therefore, we used the diagnostic result of a Chinese boy with Fanconi anemia by the next generation sequencing (NGS) as the reference, we confirmed the mutations in him, his father and pregnant mother using Sanger sequencing technique and performed the prenatal diagnosis to the fetus. A heterozygous nucleotide deletion c.989_995del7 (p.H330LfsX2) and nucleotide substitution c.3971C>T (p.P1324L) in FANCA gene were detected in the patient. Further analysis confirmed that the p.H330LfsX2 was derived from his mother and the p.P1324L from his father. As for the fetus, both of the same parental mutations were detected in amniotic fluid and cultured amniotic fluid. Our result shows that NGS combined with Sanger sequencing greatly improve the speed of prenatal diagnosis of FA.